Introduction: APECED (Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy) is an autosomal recessive disease characterized by the association of autoimmune endocrine involvement, mucocutaneous candidiasis and ectodermal tissue involvement. Observation: We report case 2 brothers from a 2nd degree consanguineous marriage with history deaths in siblings for whom diagnosis syndrome was r...

Refractory or recurrent infections of skin, nails, and the mucous membranes are clinical signs of chronic mucocutaneous candidiasis, frequently associated with immunological defects. Here we describe a 39-years-old female patient, with familial CMC, that presented with an extensive infection caused by an azole-resistant Candida albicans isolate, successfully treated with posaconazole.

Chronic oral candidiasis has been described in association with abnormalities of the endocrine system on many occasions, both in case reports (Sutphin, Albright, and McCune, 1943), and more general reviews (Kunin et al, 1963). Chronic candidiasis has also been recorded in the familial thymic aplasia described by Nezelof (Nezelof et al, 1964), Swiss-type agammaglobulinaemia (Hitzig, 1968) and Di...

Background Chronic mucocutaneous candidiasis (CMC) is a heterogeneous group of primary immunodeficiency diseases (PID) characterized by chronic and recurrent infections of the skin, nails, and oropharynx, mostly caused by Candida sp. CMC is often associated with autoimmune and endocrine disorders. However, CMC may be the only or the main phenotype in patients with AD IL-17F and AR IL-17RA defic...

Investigations into the immunological functions of three patients with chronic mucocutaneous candidiasis were carried out. Phagocytosis of Candida albicans, nitroblue tetrazolium dye reduction, complement, and immunoglobulin levels were normal. Candidacidal assays using the neutrophils of the patients in autologous serum showed significant decreases below normal levels. This decrease in kill co...

BACKGROUND Increasing numbers of mucocutaneous infection due to non-albicans species of Candida (N-CA) had been reported. Laboratory based studies showed multidrug resistance in N-CA population. OBJECTIVE Demonstrate epidemiology, clinical characteristics, sites of infection, and treatment outcomes of mucocutaneous candidiasis caused by N-CA at a dermatologic clinic, including statistical eva...

Chronic mucocutaneous candidiasis (CMC) is a primary immunodeficiency characterized by persistent or recurrent skin and mucosal surface infections with Candida species. Different gene mutations leading to CMC have been identified. These include various heterozygous gain-of-function (GOF) mutations in signal transducer and activator of transcription 1 (STAT1) that are not only associated with in...